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Several neurodegenerative diseases involve the accumulation of cellular DNA damage. Comet assays are a popular way of estimating the extent of DNA damage. Current literature on the use of deep learning to quantify DNA damage presents an…

Quantitative Methods · Quantitative Biology 2021-12-28 Srikanth Namuduri , Prateek Mehta , Lise Barbe , Stephanie Lam , Zohreh Faghihmonzavi , Steve Finkbeiner , Shekhar Bhansali

In just the last decade, a multitude of bio-technologies and software pipelines have emerged to revolutionize genomics. To further their central goal, they aim to accelerate and improve the quality of de novo whole-genome assembly starting…

Genomics · Quantitative Biology 2015-06-11 Francesco Vezzi , Giuseppe Narzisi , Bud Mishra

Deep generative models have been successfully used to learn representations for high-dimensional discrete spaces by representing discrete objects as sequences and employing powerful sequence-based deep models. Unfortunately, these…

Biological machine learning is often bottlenecked by a lack of scaled data. One promising route to relieving data bottlenecks is through high throughput screens, which can experimentally test the activity of $10^6-10^{12}$ protein sequences…

Machine Learning · Statistics 2025-10-21 Eli N. Weinstein , Andrei Slabodkin , Mattia G. Gollub , Elizabeth B. Wood

DNA sequences are prone to creating secondary structures by folding back on themselves by non-specific hybridization among its nucleotides. The formation of secondary structures makes the sequences chemically inactive towards synthesis and…

Information Theory · Computer Science 2022-11-30 Siddhartha Siddhiprada Bhoi , Paramapalli Udaya , Abhay Kumar Singh

A crucial problem in genome assembly is the discovery and correction of misassembly errors in draft genomes. We develop a method that will enhance the quality of draft genomes by identifying and removing misassembly errors using paired…

Genomics · Quantitative Biology 2014-11-24 Martin D. Muggli , Simon J. Puglisi , Roy Ronen , Christina Boucher

The field of DNA nanotechnology has made it possible to assemble, with high yields, different structures that have actionable properties. For example, researchers have created components that can be actuated. An exciting next step is to…

Machine Learning · Computer Science 2021-02-01 Emma Benjaminson , Rebecca E. Taylor , Matthew Travers

Composite DNA is a recent method to increase the base alphabet size in DNA-based data storage.This paper models synthesizing and sequencing of composite DNA and introduces coding techniques to correct substitutions, losses of entire…

Information Theory · Computer Science 2025-10-29 Frederik Walter , Omer Sabary , Antonia Wachter-Zeh , Eitan Yaakobi

The single nucleotide polymorphism (SNP) is the most widely studied type of genetic variation. A haplotype is defined as the sequence of alleles at SNP sites on each haploid chromosome. Haplotype information is essential in unravelling the…

Genomics · Quantitative Biology 2020-06-19 Sina Majidian , Mohammad Hossein Kahaei , Dick de Ridder

The general trace reconstruction problem seeks to recover an original sequence from its noisy copies independently corrupted by deletions, insertions, and substitutions. This problem arises in applications such as DNA data storage, a…

Machine Learning · Computer Science 2025-07-18 Franziska Weindel , Michael Girsch , Reinhard Heckel

Sequencing by Emergence (SEQE) is a new single-molecule nucleic acid (DNA/RNA) sequencing technology that estimates sequence as an emergent property of the binding and localization of a repertoire of short oligonucleotide probes. SEQE…

Genomics · Quantitative Biology 2021-08-04 Nicholas Boyd , Samuel Woodhouse , Kalim Mir

We live in a period where bio-informatics is rapidly expanding, a significant quantity of genomic data has been produced as a result of the advancement of high-throughput genome sequencing technology, raising concerns about the costs…

Quantitative Methods · Quantitative Biology 2023-03-10 Mehedi Hasan Sarkar , Adnan Ferdous Ashrafi

Adequate read filtering is critical when processing high-throughput data in marker-gene-based studies. Sequencing errors can cause the mis-clustering of otherwise similar reads, artificially increasing the number of retrieved Operational…

Quantitative Methods · Quantitative Biology 2015-06-02 Fernando Puente-Sánchez , Jacobo Aguirre , Víctor Parro

Background: With the fast development of next generation sequencing technologies, increasing numbers of genomes are being de novo sequenced and assembled. However, most are in fragmental and incomplete draft status, and thus it is often…

Genomics · Quantitative Biology 2020-02-28 Binghang Liu , Yujian Shi , Jianying Yuan , Xuesong Hu , Hao Zhang , Nan Li , Zhenyu Li , Yanxiang Chen , Desheng Mu , Wei Fan

A hypercomplex representation of DNA is proposed to facilitate comparison of DNA sequences with fuzzy composition. Using hypercomplex number representation, conventional sequence analysis method, such as, dot matrix analysis, dynamic…

Quantitative Methods · Quantitative Biology 2023-08-03 Jian-Jun Shu , Yajing Li

Effective and reliable data retrieval is critical for the feasibility of DNA storage, and the development of random access efficiency plays a key role in its practicality and reliability. In this paper, we study the Random Access Problem,…

Information Theory · Computer Science 2025-10-10 Anina Gruica , Maria Montanucci , Ferdinando Zullo

We describe a strategy for constructing codes for DNA-based information storage by serial composition of weighted finite-state transducers. The resulting state machines can integrate correction of substitution errors; synchronization by…

Information Theory · Computer Science 2016-11-18 Ian Holmes

Recent advances in DNA sequencing open prospects to make whole-genome analysis rapid and reliable, which is promising for various applications including personalized medicine. However, existing techniques for {\it de novo} genome assembly,…

The advent of high-throughput sequencing technologies constituted a major advance in genomic studies, offering new prospects in a wide range of applications. We propose a rigorous and flexible algorithmic solution to mapping SOLiD…

Quantitative Methods · Quantitative Biology 2011-01-18 Laurent Noé , Marta L. Gîrdea , Gregory Kucherov

The computational problem of inferring the full haplotype of a cell starting from read sequencing data is known as haplotype assembly, and consists in assigning all heterozygous Single Nucleotide Polymorphisms (SNPs) to exactly one of the…

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